At PhenoTips we are dedicated to providing you with software and services that bring your workflow into the modern age of genomics.
PhenoTips is based in Toronto, North America’s fastest-growing tech hub, just steps from the MaRS Discovery District and leading healthcare institutions. Surrounded by innovation, we are inspired to challenge the status quo of medical care in genetics, working towards a future in which patient data is unified and usable, rather than siloed in EHR systems and hospital filing cabinets.
Our mission is to empower clinicians to provide life-saving, personalized care to patients through technologies that make clinical data complete, standardized, shareable, and interoperable.
A joint research project between computer scientists at the University of Toronto and geneticists at SickKids Hospital set out to build a database linking phenotypes (physical descriptions) to genotypes (genetic characteristics). Gathering patient records, they soon discovered that mining this data from existing medical records would be impossible due to missing, inconsistent, ambiguous information, muddied by abbreviations and spelling mistakes.
A standardized, hierarchical language to describe phenotypes called the Human Phenotype Ontology (HPO) had been recently created. However, there was no practical way for clinicians to use the HPO without manually searching through over 10,000 detailed terms. No tool yet existed for simple and efficient coding of patient records using the HPO, so the team built one and named it PhenoTips.
The PhenoTips company (originally called “Gene42”) transferred out of its host institutions, took ownership of the project, and set to work translating PhenoTips from a research project into a clinic tool, with enhanced security, stability, and health system integration.
PhenoTips has grown far beyond the walls of its founding institutions and original capabilities. With pedigree drawing, symptom capture, diagnosis insights, and more, it now functions as a complete Genomic Health Record. It is now translated into 5 languages, used in over 60 countries, and integral to genetics workflows in clinics, labs, and hospitals across the globe.